ACSS2 acyl-CoA synthetase short chain family member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACSS2provided by HGNC
Official Full Name: acyl-CoA synthetase short chain family member 2provided by HGNC
Primary source: HGNC:HGNC:15814
See related: Ensembl:ENSG00000131069 MIM:605832; AllianceGenome:HGNC:15814
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACS; ACSA; ACAS2; ACECS; AceCS1; dJ1161H23.1
Summary: This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
Expression: Broad expression in fat (RPKM 49.2), duodenum (RPKM 47.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.22

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (34874989..34927959)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (36595583..36648613)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (33462792..33515762)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proteomic profiling reveals ACSS2 facilitating metabolic support in acute myeloid leukemia.
Title: Proteomic profiling reveals ACSS2 facilitating metabolic support in acute myeloid leukemia.
ACSS2 gene variants determine kidney disease risk by controlling de novo lipogenesis in kidney tubules.
Title: ACSS2 gene variants determine kidney disease risk by controlling de novo lipogenesis in kidney tubules.
ACSS2-mediated NF-kappaB activation promotes alkaliptosis in human pancreatic cancer cells.
Title: ACSS2-mediated NF-κB activation promotes alkaliptosis in human pancreatic cancer cells.
Acetyl-Coenzyme A Synthetase 2 Potentiates Macropinocytosis and Muscle Wasting Through Metabolic Reprogramming in Pancreatic Cancer.
Title: Acetyl-Coenzyme A Synthetase 2 Potentiates Macropinocytosis and Muscle Wasting Through Metabolic Reprogramming in Pancreatic Cancer.
O-GlcNAc transferase regulates glioblastoma acetate metabolism via regulation of CDK5-dependent ACSS2 phosphorylation.
Title: O-GlcNAc transferase regulates glioblastoma acetate metabolism via regulation of CDK5-dependent ACSS2 phosphorylation.
Mammalian acetate-dependent acetyl CoA synthetase 2 contains multiple protein destabilization and masking elements.
Title: Mammalian acetate-dependent acetyl CoA synthetase 2 contains multiple protein destabilization and masking elements.
the alternative transcription start site selection of ACSS2 was significantly different between hepatocellular carcinoma and corresponding adjacent tissues.
Title: Alternative transcription start site selection in ACSS2 controls its nuclear localization and promotes ribosome biosynthesis in hepatocellular carcinoma.
Low ACSS2 expression is associated with Abdominal Aortic Aneurysm.
Title: miR-30a-GNG2 and miR-15b-ACSS2 Interaction Pairs May Be Potentially Crucial for Development of Abdominal Aortic Aneurysm by Influencing Inflammation.
Silencing ACSS2 expression inhibits migration and invasion of cervical cancer cells induced by nutrient stress, which is related to down-regulated Wnt/beta-catenin signaling pathway activity.
Title: [Knockdown of ACSS2 inhibits invasion and migration of cervical cancer cells induced by nutrient stress and its mechanism].
Results suggest that ACSS2 gene is associated with human alcoholism and ethanol intake in a free-choice animal model, and even the compulsive-like behavior associated with ethanol use. Finally, slight alterations in metabolism could be responsible for the difference between ethanol non-preferring, ethanol-preferring and compulsive-like ethanol consumption.
Title: Possible involvement of ACSS2 gene in alcoholism.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D20S532E (e-PCR)
- UniSTS:32291

D20S106 (e-PCR)
- UniSTS:8546

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AMP binding	IC Inferred by Curator more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables acetate-CoA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetate-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables acetate-CoA ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables acetate-CoA ligase activity	TAS Traceable Author Statement more info
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables propionate-CoA ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in acetate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in acetyl-CoA biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in acetyl-CoA biosynthetic process from acetate	IEA Inferred from Electronic Annotation more info
involved_in ethanol catabolic process	TAS Traceable Author Statement more info
involved_in lipid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in long-term memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in propionate biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: acetyl-coenzyme A synthetase, cytoplasmic

Names: acetate thiokinase; acetate-CoA ligase; acetyl-CoA synthetase 1; acetyl-Coenzyme A synthetase 2 (ADP forming); acyl-activating enzyme; cytoplasmic acetyl-coenzyme A synthetase; propionate--CoA ligase

NP_001070020.2

EC 6.2.1.1

EC 6.2.1.17

NP_001229322.1

EC 6.2.1.1

EC 6.2.1.17

NP_061147.1

EC 6.2.1.1

EC 6.2.1.17

XP_005260512.1

EC 6.2.1.1

EC 6.2.1.17

XP_005260513.1

EC 6.2.1.1

EC 6.2.1.17

XP_011527207.1

EC 6.2.1.1

EC 6.2.1.17

XP_011527208.1

EC 6.2.1.1

EC 6.2.1.17

XP_011527209.1

EC 6.2.1.1

EC 6.2.1.17

XP_011527210.1

EC 6.2.1.1

EC 6.2.1.17

XP_011527211.1

EC 6.2.1.1

EC 6.2.1.17

XP_011527213.1

EC 6.2.1.1

EC 6.2.1.17

XP_047296249.1

EC 6.2.1.1

EC 6.2.1.17

XP_047296250.1

EC 6.2.1.1

EC 6.2.1.17

XP_054179667.1

EC 6.2.1.1

EC 6.2.1.17

XP_054179668.1

EC 6.2.1.1

EC 6.2.1.17

XP_054179669.1

EC 6.2.1.1

EC 6.2.1.17

XP_054179670.1

EC 6.2.1.1

EC 6.2.1.17

XP_054179671.1

EC 6.2.1.1

EC 6.2.1.17

XP_054179672.1

EC 6.2.1.1

EC 6.2.1.17

XP_054179673.1

EC 6.2.1.1

EC 6.2.1.17

XP_054179674.1

EC 6.2.1.1

EC 6.2.1.17

XP_054179675.1

EC 6.2.1.1

EC 6.2.1.17

XP_054179676.1

EC 6.2.1.1

EC 6.2.1.17

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011520.1 RefSeqGene

Range

6671..58018

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001076552.3 → NP_001070020.2 acetyl-coenzyme A synthetase, cytoplasmic isoform 2

See identical proteins and their annotated locations for NP_001070020.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate in-frame exon in the central coding region, compared to variant 1, resulting in a longer isoform (2), compared to isoform 1.

Source sequence(s)

AK092281, BC010141, DA411343

Consensus CDS

CCDS42868.2

UniProtKB/TrEMBL

Q6DKJ3

Related

ENSP00000253382.5, ENST00000253382.5

Conserved Domains (2) summary

cd05966
Location:51 → 698

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

PRK00174
Location:31 → 705

PRK00174; acetyl-CoA synthetase; Provisional
NM_001242393.2 → NP_001229322.1 acetyl-coenzyme A synthetase, cytoplasmic isoform 3

See identical proteins and their annotated locations for NP_001229322.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK000162, BC010141, DA626707

UniProtKB/TrEMBL

A6NLR6, Q4G0E8, Q6DKJ3

Conserved Domains (2) summary

cd05966
Location:1 → 590

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

TIGR02188
Location:2 → 597

Ac_CoA_lig_AcsA; acetate--CoA ligase
NM_018677.4 → NP_061147.1 acetyl-coenzyme A synthetase, cytoplasmic isoform 1

See identical proteins and their annotated locations for NP_061147.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the predominant isoform (1).

Source sequence(s)

BC073846, DA411343

Consensus CDS

CCDS13243.1

UniProtKB/Swiss-Prot

A6NE90, Q5QPH2, Q5QPH3, Q8N238, Q96EL0, Q9NQP7, Q9NR19, Q9UJ15

UniProtKB/TrEMBL

Q6DKJ3

Related

ENSP00000353804.2, ENST00000360596.7

Conserved Domains (1) summary

cd05966
Location:45 → 685

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

34874989..34927959

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528909.3 → XP_011527211.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X7

UniProtKB/TrEMBL

Q6DKJ3

Conserved Domains (2) summary

cd05966
Location:10 → 671

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

PRK00174
Location:10 → 678

PRK00174; acetyl-CoA synthetase; Provisional
XM_011528911.2 → XP_011527213.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X8

UniProtKB/TrEMBL

Q6DKJ3

Conserved Domains (2) summary

cd05966
Location:10 → 658

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

PRK00174
Location:10 → 665

PRK00174; acetyl-CoA synthetase; Provisional
XM_047440293.1 → XP_047296249.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X9
XM_047440294.1 → XP_047296250.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X10
XM_011528905.2 → XP_011527207.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X1

UniProtKB/TrEMBL

Q6DKJ3

Conserved Domains (2) summary

cd05966
Location:51 → 721

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

PRK00174
Location:31 → 728

PRK00174; acetyl-CoA synthetase; Provisional
XM_011528906.2 → XP_011527208.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X2

UniProtKB/TrEMBL

Q6DKJ3

Conserved Domains (2) summary

cd05966
Location:51 → 711

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

PRK00174
Location:31 → 718

PRK00174; acetyl-CoA synthetase; Provisional
XM_011528907.2 → XP_011527209.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X3

UniProtKB/TrEMBL

Q6DKJ3

Conserved Domains (2) summary

cd05966
Location:51 → 708

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

PRK00174
Location:31 → 715

PRK00174; acetyl-CoA synthetase; Provisional
XM_011528908.2 → XP_011527210.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X5

See identical proteins and their annotated locations for XP_011527210.1

UniProtKB/TrEMBL

Q6DKJ3

Conserved Domains (2) summary

cd05966
Location:51 → 698

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

PRK00174
Location:31 → 705

PRK00174; acetyl-CoA synthetase; Provisional
XM_005260455.3 → XP_005260512.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X4

UniProtKB/TrEMBL

Q6DKJ3

Conserved Domains (2) summary

cd05966
Location:51 → 708

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

PRK00174
Location:31 → 715

PRK00174; acetyl-CoA synthetase; Provisional
XM_005260456.3 → XP_005260513.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X6

UniProtKB/TrEMBL

Q6DKJ3

Conserved Domains (2) summary

cd05966
Location:51 → 695

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

PRK00174
Location:31 → 702

PRK00174; acetyl-CoA synthetase; Provisional

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

36595583..36648613

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323699.1 → XP_054179674.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X8
XM_054323701.1 → XP_054179676.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X10
XM_054323698.1 → XP_054179673.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X7
XM_054323700.1 → XP_054179675.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X9
XM_054323692.1 → XP_054179667.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X1
XM_054323693.1 → XP_054179668.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X2
XM_054323694.1 → XP_054179669.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X3
XM_054323696.1 → XP_054179671.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X5
XM_054323695.1 → XP_054179670.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X4
XM_054323697.1 → XP_054179672.1 acetyl-coenzyme A synthetase, cytoplasmic isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_139274.1: Suppressed sequence

Description

NM_139274.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.